Clinical and genetic spectrum of factor XII deficiency in the Han population of East China.

Abstract excerpt

BACKGROUND: Factor XII (FXII or F12) deficiency is a rare inherited disorder, typically lacking haemorrhagic symptoms. There is limited literature exists on FXII deficiency and mutations within the Chinese population. This study aimed to characterize the spectrum of F12 gene mutations in a Chinese cohort and to investigate the relationship between FXII mutations and clinical phenotypes. METHODS: Genetic and...

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• Adolescent
• Child
• China
• East Asian People
• Factor XII
• Mutation